Variant report

Variant	rs2367289
Chromosome Location	chr4:74715281-74715282
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10015342	0.82[ASN][1000 genomes]
rs11735580	0.84[ASN][1000 genomes]
rs2367288	0.83[CHD][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes]
rs3756072	0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs3775487	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs55980137	0.80[ASN][1000 genomes]
rs56379383	0.80[ASN][1000 genomes]
rs6815457	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6828610	0.82[CHB][hapmap]
rs7658970	0.83[AMR][1000 genomes]
rs872914	0.83[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.82[ASN][1000 genomes]
rs941757	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs941758	0.83[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2367289	ANKRD56	cis	parietal	SCAN
rs2367289	BTC	cis	cerebellum	SCAN
rs2367289	PF4V1	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74706600-74719000	Weak transcription	Pancreas	Pancrea
2	chr4:74710800-74718600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:74710800-74718800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:74711200-74718800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:74711400-74718800	Weak transcription	HMEC	breast
6	chr4:74712600-74715800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr4:74713400-74715600	Enhancers	Liver	Liver
8	chr4:74713800-74718600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:74714000-74718200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:74714000-74718600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr4:74714600-74715800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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